LOCUS       NM_001127266            2803 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens transmembrane protein 129, E3 ubiquitin ligase
            (TMEM129), transcript variant 1, mRNA.
ACCESSION   NM_001127266
VERSION     NM_001127266.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2803)
  AUTHORS   Brumwell,A., Aubourg,G., Hussain,J., Parker,E., Deehan,D.J.,
            Rice,S.J. and Loughlin,J.
  TITLE     Identification of TMEM129, encoding a ubiquitin-protein ligase, as
            an effector gene of osteoarthritis genetic risk
  JOURNAL   Arthritis Res Ther 24 (1), 189 (2022)
   PUBMED   35941660
  REMARK    GeneRIF: Identification of TMEM129, encoding a ubiquitin-protein
            ligase, as an effector gene of osteoarthritis genetic risk.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2803)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2803)
  AUTHORS   van de Weijer,M.L., van Muijlwijk,G.H., Visser,L.J., Costa,A.I.,
            Wiertz,E.J. and Lebbink,R.J.
  TITLE     The E3 Ubiquitin Ligase TMEM129 Is a Tri-Spanning Transmembrane
            Protein
  JOURNAL   Viruses 8 (11), 309 (2016)
   PUBMED   27854284
  REMARK    GeneRIF: This insertion in the endoplasmic reticulum membrane
            positions the C-terminal really interesting new gene (RING) domain
            of TMEM129 in the cytosol, making it available to catalyze
            ubiquitination reactions that are required for cytosolic
            degradation of secretory proteins.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2803)
  AUTHORS   van den Boomen,D.J. and Lehner,P.J.
  TITLE     Identifying the ERAD ubiquitin E3 ligases for viral and cellular
            targeting of MHC class I
  JOURNAL   Mol Immunol 68 (2 Pt A), 106-111 (2015)
   PUBMED   26210183
  REMARK    GeneRIF: TRC8 and TMEM129 are endoplasmic reticulum-associated
            degradation ubiquitin E3 ligases for viral and cellular targeting
            of MHC class I. (Review)
            Review article
REFERENCE   5  (bases 1 to 2803)
  AUTHORS   van den Boomen,D.J., Timms,R.T., Grice,G.L., Stagg,H.R., Skodt,K.,
            Dougan,G., Nathan,J.A. and Lehner,P.J.
  TITLE     TMEM129 is a Derlin-1 associated ERAD E3 ligase essential for
            virus-induced degradation of MHC-I
  JOURNAL   Proc Natl Acad Sci U S A 111 (31), 11425-11430 (2014)
   PUBMED   25030448
  REMARK    GeneRIF: TMEM129 contains an unusual cysteine-only RING with
            intrinsic E3 ligase activity and is recruited to US11 via Derlin-1.
REFERENCE   6  (bases 1 to 2803)
  AUTHORS   van de Weijer,M.L., Bassik,M.C., Luteijn,R.D., Voorburg,C.M.,
            Lohuis,M.A., Kremmer,E., Hoeben,R.C., LeProust,E.M., Chen,S.,
            Hoelen,H., Ressing,M.E., Patena,W., Weissman,J.S., McManus,M.T.,
            Wiertz,E.J. and Lebbink,R.J.
  TITLE     A high-coverage shRNA screen identifies TMEM129 as an E3 ligase
            involved in ER-associated protein degradation
  JOURNAL   Nat Commun 5, 3832 (2014)
   PUBMED   24807418
  REMARK    GeneRIF: TMEM129 is an integral part of the Endoplasmic
            Reticulum-resident dislocation complex mediating US11-induced HLA
            class I degradation.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2803)
  AUTHORS   Figueroa,J.D., Ye,Y., Siddiq,A., Garcia-Closas,M., Chatterjee,N.,
            Prokunina-Olsson,L., Cortessis,V.K., Kooperberg,C., Cussenot,O.,
            Benhamou,S., Prescott,J., Porru,S., Dinney,C.P., Malats,N.,
            Baris,D., Purdue,M., Jacobs,E.J., Albanes,D., Wang,Z., Deng,X.,
            Chung,C.C., Tang,W., Bas Bueno-de-Mesquita,H., Trichopoulos,D.,
            Ljungberg,B., Clavel-Chapelon,F., Weiderpass,E., Krogh,V.,
            Dorronsoro,M., Travis,R., Tjonneland,A., Brenan,P.,
            Chang-Claude,J., Riboli,E., Conti,D., Gago-Dominguez,M.,
            Stern,M.C., Pike,M.C., Van Den Berg,D., Yuan,J.M., Hohensee,C.,
            Rodabough,R., Cancel-Tassin,G., Roupret,M., Comperat,E., Chen,C.,
            De Vivo,I., Giovannucci,E., Hunter,D.J., Kraft,P., Lindstrom,S.,
            Carta,A., Pavanello,S., Arici,C., Mastrangelo,G., Kamat,A.M.,
            Lerner,S.P., Barton Grossman,H., Lin,J., Gu,J., Pu,X.,
            Hutchinson,A., Burdette,L., Wheeler,W., Kogevinas,M., Tardon,A.,
            Serra,C., Carrato,A., Garcia-Closas,R., Lloreta,J., Schwenn,M.,
            Karagas,M.R., Johnson,A., Schned,A., Armenti,K.R., Hosain,G.M.,
            Andriole,G. Jr., Grubb,R. 3rd, Black,A., Ryan Diver,W.,
            Gapstur,S.M., Weinstein,S.J., Virtamo,J., Haiman,C.A., Landi,M.T.,
            Caporaso,N., Fraumeni,J.F. Jr., Vineis,P., Wu,X., Silverman,D.T.,
            Chanock,S. and Rothman,N.
  TITLE     Genome-wide association study identifies multiple loci associated
            with bladder cancer risk
  JOURNAL   Hum Mol Genet 23 (5), 1387-1398 (2014)
   PUBMED   24163127
REFERENCE   8  (bases 1 to 2803)
  AUTHORS   Rothman,N., Garcia-Closas,M., Chatterjee,N., Malats,N., Wu,X.,
            Figueroa,J.D., Real,F.X., Van Den Berg,D., Matullo,G., Baris,D.,
            Thun,M., Kiemeney,L.A., Vineis,P., De Vivo,I., Albanes,D.,
            Purdue,M.P., Rafnar,T., Hildebrandt,M.A., Kiltie,A.E., Cussenot,O.,
            Golka,K., Kumar,R., Taylor,J.A., Mayordomo,J.I., Jacobs,K.B.,
            Kogevinas,M., Hutchinson,A., Wang,Z., Fu,Y.P., Prokunina-Olsson,L.,
            Burdett,L., Yeager,M., Wheeler,W., Tardon,A., Serra,C., Carrato,A.,
            Garcia-Closas,R., Lloreta,J., Johnson,A., Schwenn,M., Karagas,M.R.,
            Schned,A., Andriole,G. Jr., Grubb,R. 3rd, Black,A., Jacobs,E.J.,
            Diver,W.R., Gapstur,S.M., Weinstein,S.J., Virtamo,J.,
            Cortessis,V.K., Gago-Dominguez,M., Pike,M.C., Stern,M.C.,
            Yuan,J.M., Hunter,D.J., McGrath,M., Dinney,C.P., Czerniak,B.,
            Chen,M., Yang,H., Vermeulen,S.H., Aben,K.K., Witjes,J.A.,
            Makkinje,R.R., Sulem,P., Besenbacher,S., Stefansson,K., Riboli,E.,
            Brennan,P., Panico,S., Navarro,C., Allen,N.E.,
            Bueno-de-Mesquita,H.B., Trichopoulos,D., Caporaso,N., Landi,M.T.,
            Canzian,F., Ljungberg,B., Tjonneland,A., Clavel-Chapelon,F.,
            Bishop,D.T., Teo,M.T., Knowles,M.A., Guarrera,S., Polidoro,S.,
            Ricceri,F., Sacerdote,C., Allione,A., Cancel-Tassin,G.,
            Selinski,S., Hengstler,J.G., Dietrich,H., Fletcher,T., Rudnai,P.,
            Gurzau,E., Koppova,K., Bolick,S.C., Godfrey,A., Xu,Z.,
            Sanz-Velez,J.I., D Garcia-Prats,M., Sanchez,M., Valdivia,G.,
            Porru,S., Benhamou,S., Hoover,R.N., Fraumeni,J.F. Jr.,
            Silverman,D.T. and Chanock,S.J.
  TITLE     A multi-stage genome-wide association study of bladder cancer
            identifies multiple susceptibility loci
  JOURNAL   Nat Genet 42 (11), 978-984 (2010)
   PUBMED   20972438
REFERENCE   9  (bases 1 to 2803)
  AUTHORS   Kiemeney,L.A., Sulem,P., Besenbacher,S., Vermeulen,S.H.,
            Sigurdsson,A., Thorleifsson,G., Gudbjartsson,D.F., Stacey,S.N.,
            Gudmundsson,J., Zanon,C., Kostic,J., Masson,G., Bjarnason,H.,
            Palsson,S.T., Skarphedinsson,O.B., Gudjonsson,S.A., Witjes,J.A.,
            Grotenhuis,A.J., Verhaegh,G.W., Bishop,D.T., Sak,S.C.,
            Choudhury,A., Elliott,F., Barrett,J.H., Hurst,C.D., de
            Verdier,P.J., Ryk,C., Rudnai,P., Gurzau,E., Koppova,K., Vineis,P.,
            Polidoro,S., Guarrera,S., Sacerdote,C., Campagna,M., Placidi,D.,
            Arici,C., Zeegers,M.P., Kellen,E., Gutierrez,B.S., Sanz-Velez,J.I.,
            Sanchez-Zalabardo,M., Valdivia,G., Garcia-Prats,M.D.,
            Hengstler,J.G., Blaszkewicz,M., Dietrich,H., Ophoff,R.A., van den
            Berg,L.H., Alexiusdottir,K., Kristjansson,K., Geirsson,G.,
            Nikulasson,S., Petursdottir,V., Kong,A., Thorgeirsson,T.,
            Mungan,N.A., Lindblom,A., van Es,M.A., Porru,S., Buntinx,F.,
            Golka,K., Mayordomo,J.I., Kumar,R., Matullo,G., Steineck,G.,
            Kiltie,A.E., Aben,K.K., Jonsson,E., Thorsteinsdottir,U.,
            Knowles,M.A., Rafnar,T. and Stefansson,K.
  TITLE     A sequence variant at 4p16.3 confers susceptibility to urinary
            bladder cancer
  JOURNAL   Nat Genet 42 (5), 415-419 (2010)
   PUBMED   20348956
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC009331.2 and BC126370.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001127266.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.446926.1,
                                           SRR1803614.271089.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382936.8/ ENSP00000372394.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-367               BC009331.2         35-401
            368-2248            BC126370.1         292-2172
            2249-2803           BC009331.2         2123-2677
FEATURES             Location/Qualifiers
     source          1..2803
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2803
                     /gene="TMEM129"
                     /gene_synonym="D4S2561E"
                     /note="transmembrane protein 129, E3 ubiquitin ligase"
                     /db_xref="GeneID:92305"
                     /db_xref="HGNC:HGNC:25137"
                     /db_xref="MIM:615975"
     exon            1..691
                     /gene="TMEM129"
                     /gene_synonym="D4S2561E"
                     /inference="alignment:Splign:2.1.0"
     CDS             487..1575
                     /gene="TMEM129"
                     /gene_synonym="D4S2561E"
                     /EC_number="2.3.2.27"
                     /note="isoform a is encoded by transcript variant 1; E3
                     ubiquitin-protein ligase TM129; transmembrane protein 129,
                     E3 ubiquitin protein ligase; RING-type E3 ubiquitin
                     transferase TM129"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase TM129 isoform a"
                     /protein_id="NP_001120738.1"
                     /db_xref="CCDS:CCDS46998.1"
                     /db_xref="GeneID:92305"
                     /db_xref="HGNC:HGNC:25137"
                     /db_xref="MIM:615975"
                     /translation="MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSE
                     DAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASEKRLHALSQAPEAWRLFLLLAVT
                     LPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAP
                     GARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTN
                     PAVQAFDIWLNSTEYGELCEKLRAPIRRAAHVVIHQSLGDLFLETFASLVEVNPAYSV
                     PSSQELEACIGCMQTRASVKLVKTCQEAATGECQQCYCRPMWCLTCMGKWFASRQDPL
                     RPDTWLASRVPCPTCRARFCILDVCTVR"
     exon            692..1166
                     /gene="TMEM129"
                     /gene_synonym="D4S2561E"
                     /inference="alignment:Splign:2.1.0"
     exon            1167..1326
                     /gene="TMEM129"
                     /gene_synonym="D4S2561E"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..2803
                     /gene="TMEM129"
                     /gene_synonym="D4S2561E"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2782..2787
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM129"
                     /gene_synonym="D4S2561E"
                     /note="hexamer: AATAAA"
     polyA_site      2803
                     /gene="TMEM129"
                     /gene_synonym="D4S2561E"
                     /note="major polyA site"
ORIGIN      
        1 gtctgaagct gagaccccgg gctcgcagtc gccccatgaa tttcgagttc cgcaactgac
       61 gctactgggc ggggcttcat ggccagggcc tcgctcaggc ctaagtttcc ccacctgtgc
      121 tcaatgcaca ggtgcggtgc cgcctccagg gccggccgag aagagaggcc gcacccgcac
      181 ggggactgca tctcccagag cgccccgcga gcggccgagc ggcgggactc catgccctag
      241 agtgccccgc gggcggccgg gcggcgggac tccatgtcct agagtgcccc gcgggcggcc
      301 gggcggcggg actccatgtc ctagagtgcc ccgcgggcgg ccgggcggcg ggactccatg
      361 tcctagagtg ccccgcgggc ggccgggcgg cggccgccgc aaccgacagg tccgggactg
      421 ggcgctgcgg cctcgtccgc gcgccggggc gggggcctag ctcgacagct tcccggcggc
      481 tgcgcgatgg acagccccga ggtgaccttc actctcgcct atctggtgtt cgccgtgtgc
      541 ttcgtgttca cgcccaacga gttccacgcg gcggggctca cggtgcagaa cctgctgtcg
      601 ggctggctgg gcagcgagga cgccgccttc gtgcccttcc acttgcgccg cacggccgcc
      661 acgctgttgt gccactcgct gctgccgctc ggctactatg tgggcatgtg ccttgcggct
      721 tcagaaaagc ggctccacgc cctcagccag gcccctgagg cctggcggct cttcctgctg
      781 ctggccgtga ccctcccctc catcgcctgc atcctgatct actactggtc ccgtgaccgg
      841 tgggcctgcc acccactggc gcgcaccctg gccctctacg ccctcccaca gtctggctgg
      901 caggctgttg cctcctctgt caacactgag ttccggcgga ttgacaagtt tgccaccggt
      961 gcaccaggtg cccgtgtgat tgtgacagac acgtgggtga tgaaggtaac cacctaccga
     1021 gtgcacgtgg cccagcagca ggacgtgcac ctgactgtga cggagtctcg gcagcatgag
     1081 ctctcgccag actcgaactt gcccgtgcag ctcctcacca tccgtgtggc cagcaccaac
     1141 cctgctgtgc aggcctttga catctggctg aactccactg agtacgggga gctctgcgag
     1201 aagctccggg cacccatccg cagggcagcc catgtggtca tccaccagag cctgggcgac
     1261 ctgttcctgg agacatttgc ctccctggta gaggtcaacc cggcctactc agtgcccagc
     1321 agccaggagc tggaggcctg cataggctgc atgcagacac gtgccagcgt gaagctggtg
     1381 aagacctgcc aggaggcagc cacaggcgag tgccagcagt gttactgccg ccccatgtgg
     1441 tgcctcacct gcatgggcaa gtggttcgcc agccgccagg accccctgcg ccctgacacc
     1501 tggctggcca gccgcgtgcc ctgccccacc tgccgcgcac gcttctgcat cctggatgtg
     1561 tgcaccgtgc gctgagtggg ctggggcctt gaggtgactc tgtgtctccc cccaaagcca
     1621 cagggcaggg aagggggtgg ctgggcctcc tggctggcaa agggctctac ttaaagcaca
     1681 tgatgtagag caactcgcct ctgccctggg tctgcagaag gctgaggact tttggttaaa
     1741 agcaatcctc atgaaaacac cccaccctgc ttggcagcca gggtacaagt cctgggcacc
     1801 tcctctttgc ctccctcctg cccctttcct gctggtgggg gcagatcctg cacacacaga
     1861 cacagcgtct gcccccgagc cattccctgg agaccctggg tctaccccag gtggtcgtca
     1921 tctgggccat ttgccttact tctctggagc atacccaccc tcagttacgt gccagacctg
     1981 gaccgcattc tcctgccctg tcctggagct ggcccctggc tgcctggagg accctgggta
     2041 ggtcctgagg gtgggatgga gaagagggca ctgctgtggt gtgggagcag tcctggggct
     2101 tcctggtggc tgtgaccagt tgaggggctg ttcctgggtg gggtggcaat gggaggacag
     2161 gtcagagcgc cctcatttgt ggggctgccc ctccgggttt ctcatcctgt ccttggtgcc
     2221 tttttctgcc caacaagtcc agggaaggcc gaggtctcag actcctgggt aggggtgggg
     2281 gtttgagttg aggaccaaag tgccatagcg acatccagaa cacaagccca ccaggggtcc
     2341 agcccaggct acccactccc ctagggtctc ccaggctcag aaggggatgc acgccccctg
     2401 tggtcaagcc tctggtgggc gtcttgccca gttcctgatg gttcaagggg aggggggatg
     2461 ttggccaggc cccagggcac agccctgaca caggtgtggc tactggaggg gccttcatac
     2521 ctgcggcccc aaagcccctg ggcttggctg tttgaggcag aggtgatgga ctccgggggc
     2581 ctgacacttg ggatttggga ggcttcctag agcgctcagc aggtgaaggc agcaggggcc
     2641 atggccggga gccaggccta gctttgaact gagtttcaag ggctgccaaa gaggggcagt
     2701 gggttggggt tgtttttact acaaaataag ttacttagtt ttataaagac aaaccgattg
     2761 tagccaaatg acaccatatt taataaaatt tagtctgaag tga
//
